Autosomal recessive |
Cystic fibrosis |
β thalassaemia (β globin gene) |
Sickle cell anaemia (β globin gene) |
Spinal muscular atrophy (type I) |
Tay-Sachs disease |
Congenital adrenal hyperplasia |
Autosomal dominant |
Myotonic dystrophy |
Huntington's disease |
Charcot-Marie-Tooth disease IA |
Marfan syndrome |
Familial adenomatous polyposis coli |
X linked |
Duchenne/Becker muscular dystrophy |
Haemophilia |
Fragile X syndrome |
Wiskott-Aldrich syndrome |
Lesch-Nyhan syndrome |